FTP Download
Chinchilla Research Resource Database


Term:Brooke-Spiegler syndrome
go back to main search page
Accession:DOID:0050693 term browser browse the term
Definition:An autosomal dominant disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO)
Synonyms:exact_synonym: Ancell-Spiegler cylindromas;   BRSS;   BSS;   Brooke-Fordyce trichoepitheliomas;   Cylindromas, Dermal Eccrine;   Dermal Eccrine Cylindroma;   EAC;   Epithelioma adenoides cysticum of Brooke;   FAMILIAL MULTIPLE TRICHOEPITHELIOMATA;   Familial Trichoepithelioma;   Hereditary Multiple Benign Cystic Epithelioma;   MFT1;   Multiple Familial Trichoepithelioma;   SBS;   Turban tumor syndrome;   Turban tumors;   familial cylindromatosis;   multiple familial trichoepithelioma 1
 primary_id: MESH:C536611
 alt_id: OMIM:132700;   OMIM:601606;   OMIM:605041;   RDO:0002168;   RDO:0002243
 xref: GARD:10179
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
Brooke-Spiegler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyld CYLD lysine 63 deubiquitinase JBrowse link 19 19,264,984 19,323,817 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    disease of cellular proliferation 5566
      Hereditary Neoplastic Syndromes 647
        Brooke-Spiegler syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                Brooke-Spiegler syndrome 1
paths to the root